obsolete congenital anosmia

Congenital Anosmia: A Rare Condition

Congenital anosmia, also known as inherited anosmia, is a rare condition characterized by the complete inability to perceive smell from birth [2]. This condition affects approximately 1 in 10,000 individuals and is often diagnosed later in life due to its subtle presentation and lack of associated symptoms [2].

Causes and Characteristics

Congenital anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium [6][7]. This condition can be inherited, and isolated congenital anosmia has been found in some parents of affected individuals [6].

Symptoms and Diagnosis

People born with congenital anosmia are often unaware of their condition until later in life, when they begin to interact independently of their families [8]. The differential diagnosis is difficult because other conditions can cause similar symptoms [1].

Impact on Quality of Life

Congenital anosmia has significant safety, nutritional, and quality-of-life consequences. Individuals with this condition may experience unintended weight loss, malnutrition, and reduced quality of life due to the inability to smell and taste [9][13].

Congenital Anosmia: Signs and Symptoms

Congenital anosmia, also known as familial anosmia, is a rare condition characterized by the complete loss of smell from birth. This condition can be associated with other symptoms and signs, which are discussed below.

• Baldness: Congenital anosmia has been linked to baldness or alopecia in some individuals [8].
• Vascular Headaches: Some people with congenital anosmia may experience vascular headaches, which can be a recurring issue [8].
• Other Features: In addition to the loss of smell and baldness, other features such as head trauma have been associated with this condition [8].

It's essential to note that congenital anosmia is a rare condition, and not all individuals with this condition will exhibit these symptoms. If you suspect you or someone else has congenital anosmia, it's crucial to consult a medical professional for proper diagnosis and treatment.

References: [8] by BB Wrobel · 2004 · Cited by 32 — Another congenital olfactory dys- function, familial anosmia, has been associated with baldness and vascular headaches, along with other features. Head trauma.

Diagnostic Tests for Congenital Anosmia

Congenital anosmia, also known as congenital smell blindness, is a rare condition where an individual is born without the ability to detect smells. Diagnosing this condition can be challenging, and it often requires a combination of clinical evaluations, smell tests, and imaging studies.

Clinical Evaluations

A thorough physical examination and medical history are essential in identifying other conditions that may interfere with the sense of smell. This includes evaluating the individual's overall health, medical history, and any previous diagnoses or treatments (1).

Smell Tests

Several smell tests have been developed to assess an individual's ability to detect odors. These tests include:

• Orthonasal smell tests, such as the Sniffin' Sticks and the UPSIT (3)
• Validated abridged smell tests (3)

These tests can help identify individuals with congenital anosmia by assessing their ability to detect specific smells.

Imaging Studies

Imaging studies, such as MRI scans, may be used to confirm a diagnosis of congenital anosmia or rule out other conditions. For example, a 3T MRI scan revealed no olfactory bulbs but developed olfactory sulci in one study (8).

Other Diagnostic Tests

In addition to clinical evaluations, smell tests, and imaging studies, other diagnostic tests may be used to confirm a diagnosis of congenital anosmia. These include:

• CT scans
• Other imaging modalities (9)

It's essential to note that there is no single test that can definitively diagnose congenital anosmia. A combination of these tests and clinical evaluations is often necessary to make an accurate diagnosis.

References: (1) [1] (3) [3] (8) [8] (9) [9]

Based on the available information, it appears that there are limited treatment options for congenital anosmia, which is a condition where an individual is born with a reduced or absent sense of smell.

According to search result [3], treatments may include changing medications, treating an infection (such as COVID-19), smell retraining therapy, or surgery to remove a blockage. However, it's essential to note that these treatments are not specifically tailored for congenital anosmia.

Search result [5] mentions that intranasal corticosteroids are the mainstay of treatment for patients with inflammatory and obstructive diseases, which may be related to anosmia. However, there is no specific mention of drug treatment for congenital anosmia.

Search result [6] states that the treatment and management depend on the etiology as anosmia is not a diagnosis but a symptom. This suggests that the underlying cause of the anosmia needs to be identified before any treatment can be considered.

Unfortunately, it appears that there are no specific drug treatments available for congenital anosmia. The focus seems to be on managing symptoms and addressing underlying conditions rather than targeting the condition itself.

Possible Treatment Options:

• Changing medications
• Treating an infection (such as COVID-19)
• Smell retraining therapy
• Surgery to remove a blockage

However, it's essential to consult with a healthcare professional for personalized advice on managing congenital anosmia.

The differential diagnosis of obsolete congenital anosmia involves identifying other possible causes for the condition, aside from the typical genetic or developmental factors.

According to [1], the differential diagnosis is difficult because other causes such as head trauma, infections, and tumors can also lead to anosmia. Similarly, [3] states that the differential diagnosis is small, but diagnosis can be difficult because of the various possible causes.

In many cases, congenital anosmia may not be noticed until later in life, around 10 years of age [1][6]. This delayed onset can make it challenging to determine the underlying cause of the condition. Other conditions that can lead to anosmia include rhinosinusitis, neurological illnesses, granulomatous diseases, sinonasal malignancies, and brain tumors [4].

It's worth noting that smell testing can aid in differential diagnosis, as a number of disorders can be identified through olfactory testing [7]. However, the presence of anosmia/hyposmia with normal olfactory bulbs is intriguing and suggests other causes for this symptom must exist [9].

In some cases, congenital syphilis may be responsible for anosmia due to damage to the nasal septum, resulting in a characteristic "saddle-nose" deformity [8]. The diagnosis of obsolete congenital anosmia requires a comprehensive evaluation, including finding anosmia and low gonadotropin levels, and MRI will show absence or hypoplasia of the olfactory bulbs [10].

References: [1] BB Wrobel · 2004 · Cited by 196 [3] BB Wrobel · 2004 · Cited by 32 [4] [6] BB Wrobel · 2004 · Cited by 196 [7] [8] [9] E Della Valle · 2013 · Cited by 25 [10]